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Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.

Miriam Cerván-MartínLara Bossini-CastilloRocío Rivera-EgeaNicolás GarridoSaturnino LujánGema RomeuSamuel Santos-Ribeironull nullJose Antonio CastillaMaría Del Carmen GonzalvoAna ClaveroFrancisco Javier VicenteAndrea Guzmán-JiménezMiguel BurgosFrancisco Javier BarrionuevoRafael JiménezJosvany Sánchez-CurbeloOlga López-RodrigoMaría Fernanda PerazaIris Pereira-CaetanoPatrícia Isabel MarquesFilipa CarvalhoAlberto BarrosLluís BassasSusana SeixasJoão GonçalvesSara LarribaAlexandra Manuel LopesFrancisco David CarmonaRogelio Jesús Palomino-Morales
Published in: Andrology (2021)
Our data support the association of three previously reported NOA risk variants in Asians (ABLIM1-rs7099208, CDC42BPA-rs3000811, and PEX10-rs2477686) with different manifestations of SpF in Iberians of European descent, likely by influencing gene expression and lincRNA deregulation.
Keyphrases
  • gene expression
  • dna methylation
  • copy number
  • electronic health record
  • early onset
  • molecular docking
  • cell cycle
  • big data
  • cell proliferation
  • deep learning
  • data analysis